R37L (p.Arg37Leu) variant of ABCD1 (P33897)
R37L (p.Arg37Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- rs1257848735
- ClinGen CA415097591
- ClinVar RCV000585313
- ClinVar RCV006612416
- Uncertain significance
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.28
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM 0.04
- CADD 18.80
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (not provided; Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)